ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V1129 | Small Variation | NOTCH1 | NM_017617.5:c.865+2C>A | non-isolated CHD: BAV, AVS |
V1137 | Small Variation | NOTCH1 | NM_017617.5:c.2643delC | non-isolated CHD: BAV, AVS |
V1149 | Small Variation | NOTCH1 | NM_017617.5:c.1904-2A>G | non-isolated CHD: BAV, AVS |